Canonical Allele Identifier: CA400180112

Gene: SGCA

Linked Data

• gnomAD v4: 17-50168548-T-C
• MyVariant Identifiers: chr17:g.48245909T>C (hg19) ; chr17:g.50168548T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50168548T>C , CM000679.2:g.50168548T>C	GRCh38
NC_000017.10:g.48245909T>C , CM000679.1:g.48245909T>C	GRCh37
NC_000017.9:g.45600908T>C	NCBI36
NG_008889.1:g.7544T>C , LRG_203:g.7544T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.560T>C	ENSP00000422030.2:p.Leu187Pro
ENST00000511303.6:n.285T>C
ENST00000512526.2:c.551T>C	ENSP00000426606.2:n.551T>C
ENST00000682109.1:c.440T>C	ENSP00000508041.1:p.Leu147Pro
ENST00000683226.1:n.270T>C
ENST00000683294.1:c.560T>C	ENSP00000508134.1:p.Leu187Pro
ENST00000262018.8:c.560T>C MANE Select	ENSP00000262018.3:p.Leu187Pro
ENST00000262018.7:c.560T>C	ENSP00000262018.3:p.Leu187Pro
ENST00000344627.10:c.560T>C	ENSP00000345522.6:p.Leu187Pro
ENST00000502555.5:c.*219T>C	ENSP00000422817.1:n.*219T>C
ENST00000504073.1:c.27T>C
ENST00000511303.5:c.281T>C	ENSP00000426104.1:p.Leu94Pro
ENST00000512526.1:c.395T>C
ENST00000513821.5:c.560T>C	ENSP00000426571.1:p.Leu187Pro
ENST00000513942.5:n.351T>C
ENST00000514934.1:c.*266T>C	ENSP00000423168.1:n.*266T>C
NM_000023.2:c.560T>C , LRG_203t1:c.560T>C	NP_000014.1:p.Leu187Pro
NM_001135697.1:c.560T>C	NP_001129169.1:p.Leu187Pro
XM_011525120.1:c.560T>C	XP_011523422.1:p.Leu187Pro
XM_011525121.1:c.560T>C	XP_011523423.1:p.Leu187Pro
XM_011525122.1:c.560T>C	XP_011523424.1:p.Leu187Pro
XM_011525123.1:c.560T>C	XP_011523425.1:p.Leu187Pro
XM_011525124.1:c.254T>C	XP_011523426.1:p.Leu85Pro
XR_934517.1:n.626T>C
NM_000023.3:c.560T>C	NP_000014.1:p.Leu187Pro
NM_001135697.2:c.560T>C	NP_001129169.1:p.Leu187Pro
NR_135553.1:n.616T>C
XM_011525120.2:c.722T>C	XP_011523422.2:p.Leu241Pro
XM_011525121.2:c.722T>C	XP_011523423.2:p.Leu241Pro
XM_011525122.2:c.722T>C	XP_011523424.2:p.Leu241Pro
XM_011525123.2:c.722T>C	XP_011523425.2:p.Leu241Pro
XM_011525124.2:c.254T>C	XP_011523426.1:p.Leu85Pro
XM_024450873.1:c.254T>C	XP_024306641.1:p.Leu85Pro
XR_002958056.1:n.1078T>C
NM_000023.4:c.560T>C MANE Select	NP_000014.1:p.Leu187Pro
NM_001135697.3:c.560T>C	NP_001129169.1:p.Leu187Pro
NR_135553.2:n.596T>C